Katherine Lachlan

7.3k citations

45 papers · 1.4k indexed · h-index 19

Genetics top 5%
- Genomic variations and chromosomal abnormalities 10
- Genetics and Neurodevelopmental Disorders 8
- Genomics and Rare Diseases 6
Molecular Biology top 10%
- PI3K/AKT/mTOR signaling in cancer 8
- Ion channel regulation and function 4
- Genomics and Chromatin Dynamics 3
Cancer Research
Genetics
- Genomic variations and chromosomal abnormalities 10
- Genetics and Neurodevelopmental Disorders 8
- Genomics and Rare Diseases 6
Cognitive Neuroscience top 10%
Surgery
- Congenital Anomalies and Fetal Surgery 3
Pediatrics, Perinatology and Child Health
- Prenatal Screening and Diagnostics 3

Co-authors: I. Karen Temple David J. Bunyan Anneke Lucassen P. A. Jacobs N. Simon Thomas Marc Tischkowitz Nicola Cooper William L. Macken
Cited by: Genetics Molecular Biology Cancer Research
Journals: New England Journal of Medicine (1 paper)The Lancet (1 paper)Nature Communications (1 paper)
Partner nations: United Kingdom United States Australia

In The Last Decade

Katherine Lachlan

42 papers receiving 1.3k citations

Peers

Countries citing papers authored by Katherine Lachlan

Since Specialization

Citations

This map shows the geographic impact of Katherine Lachlan's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Katherine Lachlan with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Katherine Lachlan more than expected).

Fields of papers citing papers by Katherine Lachlan

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Katherine Lachlan. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Katherine Lachlan. The network helps show where Katherine Lachlan may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Katherine Lachlan, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Katherine Lachlan Line = papers co-authored together Katherine Lachlan links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Exploring tonsil pathology in PTEN hamartoma syndrome: a cohort study The Journal of Laryngology & Otology ·Lauren Cairns,C. Findlay,Nimeshi Jayakody,Kwamena Amonoo‐Kuofi,Nimesh Patel,Katherine Lachlan	2024	1
2	Development of informant‐report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes American Journal of Medical Genetics Part A ·Thomas Frazier,Robyn M. Busch,Patricia Klaas,Katherine Lachlan,Shafali Jeste,Alexander Kolevzon,Eva Loth,Jacqueline K. Harris,Leslie Speer,Thomas Pepper,Kristin Anthony,J. Michael Graglia,Christal G. Delagrammatikas,Sandra Bedrosian‐Sermone,Jenine Beekhuyzen,Constance Smith‐Hicks,Mustafa Şahin,Charis Eng,Antonia Y. Hardan,Mirko Uljarević	2023	7
3	Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia Journal of Medical Genetics ·Hildegard Nikki Hall,David Parry,Mihail Halachev,Kathleen A. Williamson,Kevin Donnelly,Jose Campos Parada,Shipra Bhatia,Jeffrey T. Joseph,Simon Holden,Trine Prescott,Pierre Bitoun,Edwin P. Kirk,Ruth Newbury‐Ecob,Katherine Lachlan,Juan Bernar,Veronica van Heyningen,David Fitzpatrick,Alison Meynert	2023	4
4	Dissection of contiguous gene effects for deletions around ERF on chromosome 19 Human Mutation ·Eduardo Calpena,Simon J. McGowan,Fiona Blanco‐Kelly,Elise Boudry‐Labis,Anne Dieux‐Coëslier,Rachel Harrison,Diana Johnson,Katherine Lachlan,Jenny E.V. Morton,Helen Stewart,Pradeep Vasudevan,Stephen R.F. Twigg,Andrew O.M. Wilkie	2021	2
5	Haematological chimerism masquerading as disorder of sex development Clinical Endocrinology ·Sophia Sakka,Kathy Mann,Katherine Lachlan,Justin H. Davies,Mark S. Bateman,Muriel Holder‐Espinasse,Ved Bhushan Arya	2020	1
6	Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome American Journal of Medical Genetics Part A ·Mary B. Callaghan,Robert D. M. Hadden,Jon S. King,Katherine Lachlan,Fleur S. van Dijk,Peter D. Turnpenny	2019	5
7	Contribution of retrotransposition to developmental disorders Nature Communications ·Eugene J. Gardner,Elena Prigmore,Giuseppe Gallone,Petr Danecek,Kaitlin E. Samocha,Juliet Handsaker,Sebastian S. Gerety,Holly Ironfield,Patrick Short,Alejandro Sifrim,Tarjinder Singh,Kate Chandler,Emma Clement,Katherine Lachlan,Katrina Prescott,Elisabeth Rosser,David Fitzpatrick,Helen V. Firth,Matthew E. Hurles	2019	39
8	Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel Human Mutation ·Jessica L. Mester,Rajarshi Ghosh,Tina Pesaran,Robert Huether,Rachid Karam,Kathleen S. Hruska,Helio A. Costa,Katherine Lachlan,Joanne Ngeow,Jill S. Barnholtz‐Sloan,Kaitlin Sesock,Felicia Hernandez,Liying Zhang,Laura V. Milko,Sharon E. Plon,Madhuri Hegde,Charis Eng	2018	89
9	Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities American Journal of Medical Genetics Part A ·Mark S. Bateman,Morag N. Collinson,David J. Bunyan,Amanda Collins,Philippa Duncan,Rachel Firth,Victoria Harrison,Tessa Homfray,Shuwen Huang,Beth Kirk,Katherine Lachlan,Viv Maloney,John Barber	2017	5
10	De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability American Journal of Medical Genetics Part A ·Michael Parker,Alan Fryer,Deborah Shears,Katherine Lachlan,Shane McKee,Alex Magee,Shehla Mohammed,Pradeep Vasudevan,Soo‐Mi Park,Valérie Benoît,Damien Lederer,Isabelle Maystadt,DDD Study,David Fitzpatrick	2015	79
11	Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease Pediatric Nephrology ·Rodney D. Gilbert,Priya Sukhtankar,Katherine Lachlan,Darren Fowler	2013	14
12	PTEN Mutations as a Cause of Constitutive Insulin Sensitivity and Obesity New England Journal of Medicine ·Aparna Pal,Thomas M. Barber,Martijn van de Bunt,Simon A. Rudge,Zuo‐Feng Zhang,Katherine Lachlan,Nicola Cooper,Helen Linden,J Lévy,Michael J.O. Wakelam,Lisa Walker,Fredrik Karpe,Anna L. Gloyn	2012	174
13	Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility European Journal of Medical Genetics ·Catherine L. Mercer,Katherine Lachlan,Alexandra Karcanias,Nabeel A. Affara,Shuwen Huang,Patricia A. Jacobs,N. Simon Thomas	2012	37
14	King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene Neuromuscular Disorders ·James J. Dowling,Suzanne Lillis,Kimberley Amburgey,Haiyan Zhou,Safa Al‐Sarraj,Stefan Buk,Elizabeth Wraige,Gabby Chow,Stephen Abbs,Steven M. Leber,Katherine Lachlan,Diana Baralle,Alexandra Taylor,Caroline A. Sewry,Francesco Muntoni,Heinz Jungbluth	2011	72
15	A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility Journal of Clinical Neuroscience ·Adam Taylor,Katherine Lachlan,R M Manners,Andrew Lotery	2011	11
16	Clinical and radiographic delineation of odontochondrodysplasia American Journal of Medical Genetics Part A ·Sheila Unger,Franco Antoniazzi,Milena Brugnara,Yasemin Alanay,Ahmet Okay Çağlayan,Katherine Lachlan,Shiro Ikegawa,Gen Nishimura,Bernhard Zabel,Jürgen W. Spranger,Andrea Superti‐Furga	2008	18
17	Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome Human Mutation ·Kyu‐Seon Oh,Sikandar G. Khan,N.G.J. Jaspers,Anja Raams,Takahiro Ueda,Alan R. Lehmann,Peter S. Friedmann,Steffen Emmert,Alexei Gratchev,Katherine Lachlan,Anneke Lucassan,Carl C. Baker,Kenneth H. Kraemer	2006	98
18	A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions Human Genetics ·Katherine Lachlan,Sheila Youings,Teresa Costa,P. A. Jacobs,N. Simon Thomas	2005	47
19	Functional disomy resulting from duplications of distal Xq in four unrelated patients Human Genetics ·Katherine Lachlan,Morag N. Collinson,Richard Sandford,Berendine van Zyl,Patricia A. Jacobs,N. Simon Thomas	2004	39
20	Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome European Journal of Human Genetics ·Katherine Lachlan,I. Karen Temple,Andrew Mumford	2004	16

About Katherine Lachlan

Katherine Lachlan is a scholar working on Genetics, Molecular Biology and Genetics, having authored 45 papers that have together received 1.4k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (10 papers), PI3K/AKT/mTOR signaling in cancer (8 papers), Genetics and Neurodevelopmental Disorders (8 papers), Genomics and Rare Diseases (6 papers), Ion channel regulation and function (4 papers), Genomics and Chromatin Dynamics (3 papers), Congenital Anomalies and Fetal Surgery (3 papers) and Prenatal Screening and Diagnostics (3 papers). The work is most often cited by research in Genetics (659 citations), Molecular Biology (869 citations) and Cancer Research (122 citations). Katherine Lachlan has collaborated with scholars based in United Kingdom, United States and Australia. Frequent co-authors include I. Karen Temple, David J. Bunyan, Anneke Lucassen, P. A. Jacobs, N. Simon Thomas, Marc Tischkowitz, Nicola Cooper, William L. Macken, Alan Fryer and Zuo‐Feng Zhang. Their work appears in journals such as New England Journal of Medicine, The Lancet and Nature Communications.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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